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Definition/Description

Mixed connective tissue disease (MCTD) is a systemic disease which consists of clinical symptoms observed in the following three disorders: systemic lupus erythematosus, polymyositis, and systemic sclerosis (also known as systemic scleroderma) .[1][2] MCTD is considered an "overlapping disease" as it contains features of these three disorders. The features can be categorized broadly as arthritic changes, cardiopulmonary dysfunctions, skin changes, muscle weakness, kidney disease, and dysfunctions of the esophagus.[3]

The symptoms associated with the three underlying disorders do not generally present simultaneously.[4] It usually takes several years before the symptoms of each individual disorder present, which ultimately complicates the diagnosis of MCTD.[4]Typically, the first symptom to present is swelling of the fingers, or the presentation of “sausage fingers”.[5] As the disease progresses, it can often affect multiple organs such as the lungs, heart, and/or kidneys.[3] There is no cure for MCTD, however side effects can be managed through the use of medications.[5]

Prevalence

It has been reported that 80% of individuals diagnosed with MCTD are women, with the highest prevalence in the age group under thirty.[4] Other sources have reported statistics collected from patients ages 5 through 80, with the peak prevalence around 20 years of age. [6] Estimates of this disease show it occurs in between 2-6.4out of every 100,000 individuals. [2]

Etiology/Causes

The exact cause of MCTD is unknown, but it has been classified as an autoimmune disorder. Individuals with this disease have high levels of antinuclear antibodies (ANAs) and antibodies to U1 snRNP.[3]

A genetic link can be seen in MCTD in that some individuals diagnosed with MCTD report having a family member who also has a connective tissue disease.[5] Also, exposures to certain chemicals or viruses such as silica or polyvinyl chloride have been found as potential causes of MCTD.[5]

Medical management

Medical management is undertaken by a range of specialist working together. Since there is no cure yet for the disease, management is focussed on control of symptoms and minimising systemic involvement. A variety of medications will be used to manage the various symptoms associated with the disease (s)

Corticosteroids[4][6]- may be used to manage synovitis ( active, or more severe disease)

Anti-malarial drugs- may be used it manage synovitis, may help prevent diesase flares [4]

Nonsteroidal anti-inflammatory drugs - may be used to manage arthritis/ arthralgia[2][6]-

Immunosuppressive drugs[6]- may be used to manage refractory synoviits, and pulmonary hypertension in some patients

Calcium channel blockers[2][4]- may be used to treat Raynaud’s ( Vasodilation and possible antiplatelet effects)

Phosphodiesterase inhibitors[2]- may be used to treat pulmonary hypertension

Endothelial receptor antagonists [2] - may be used to treat pulmonary hypertension

Currently, there are three different criteria classification systems that are associated with predicting the probability that an individual may have MCTD. These three classification systems are set forth by Modified Sharp et al (1987), Alarcon Segovia et al (1987), and Kauskawa et al (1987).[9] Listed below are the criteria sets that are presently used in the diagnosing MCTD.

Malar rash

Physical Therapy Management (current best evidence)

Since there has been limited research regarding physical therapy treatment in patients with MCTD, interventions should be tailored to address the impairments of each individual. Although each person presents differently, there are some common areas that need to be addressed in nearly all cases. Individuals with MCTD often present with decreased aerobic capacity and weakness of the proximal musculature.[10] Physical therapists should treat according to the common deficits seen in the disease, as well as personal impairments that arise with each case.

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